Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 137631
OMIM Id: 611926
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic interstitial lung disease
 -Rare genetic disease
Genetic susceptibility to infections due to particular pathogens
 -Rare genetic disease
 -Rare immune disease
Primary interstitial lung disease specific to childhood
 -Rare respiratory disease
Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000133) Gonadal dysgenesis 21 / 7739
2
 (HPO:0001684) Secundum atrial septal defect 14 / 7739
3
 (HPO:0002720) IgA deficiency 33 / 7739
4
 (HPO:0002850) IgM deficiency 18 / 7739
5
 (HPO:0004315) IgG deficiency 38 / 7739
6
 (HPO:0005407) Decreased number of CD4+ T cells 6 / 7739
7
 (HPO:0005415) Decreased number of CD8+ T cells 3 / 7739
8
 (HPO:0002206) Pulmonary fibrosis 51 / 7739
9
 (HPO:0002721) Immunodeficiency 97 / 7739
10
 (HPO:0100765) Abnormality of the tonsils 10 / 7739
11
 (HPO:0000777) Abnormality of the thymus 9 / 7739
12
 (OMIM) Absent tonsils 2 / 7739
13
 (OMIM) Normal numbers of CD19+ B-lymphocytes 1 / 7739
14
 (OMIM) [DEL] Atrial septal defect, secundum type 7 / 7739
15
 (OMIM) Mucosal lymphoid tissue markedly reduced 1 / 7739
16
 (OMIM) Streak ovaries with no discernable oocytes 1 / 7739
17
 (OMIM) Interalveolar fibrosis, rapidly progressive 1 / 7739
18
 (OMIM) Normal numbers of CD56+ natural killer cells 1 / 7739
19
 (OMIM) Undetectable IgM and IgA 1 / 7739
20
 (OMIM) Reduced CD3+, CD4+, and CD8+ T-lymphocytes 1 / 7739
21
 (OMIM) Atrophic thymus 1 / 7739
22
 (OMIM) Low IgG 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Somech et al. (2008) described 2 sisters, born of first-cousin parents of Sri Lankan descent, who presented in infancy with immunodeficiency, gonadal dysgenesis, and fatal pulmonary fibrosis. The infants displayed no dysmorphic features. Immune studies demonstrated combined humoral ...
Molecular genetics OMIM In 2 sisters with normal 46,XX karyotype and immunodeficiency, gonadal dysgenesis, and fatal pulmonary fibrosis, Somech et al. (2008) performed FISH analysis that showed no deletion or duplication for the X centromeric region, the SRY gene (480000), and ...